Related gene-specific medical variations for Gene (Select 4751) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3028628	NM_002497.4(NEK2):c.37A>C (p.Thr13Pro)	LOC129932452, NEK2 (T13P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2821329	NM_002497.4(NEK2):c.18G>A (p.Glu6=)	LOC129932452, NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812430	NM_002497.4(NEK2):c.65G>A (p.Cys22Tyr)	LOC129932452, NEK2 (C22Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004915	NM_002497.4(NEK2):c.85A>T (p.Ser29Cys)	LOC129932452, NEK2 (S29C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972495	NM_002497.4(NEK2):c.96G>T (p.Lys32Asn)	LOC129932452, NEK2 (K32N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966233	NM_002497.4(NEK2):c.77G>T (p.Arg26Leu)	LOC129932452, NEK2 (R26L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1670444	NM_002497.4(NEK2):c.96+16A>G	LOC129932452, NEK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645661	NM_002497.4(NEK2):c.96+10G>A	LOC129932452, NEK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1616884	NM_002497.4(NEK2):c.96+7G>A	LOC129932452, NEK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1491837	NM_002497.4(NEK2):c.50G>A (p.Gly17Asp)	LOC129932452, NEK2 (G17D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1412954	NM_002497.4(NEK2):c.80G>A (p.Arg27Lys)	LOC129932452, NEK2 (R27K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367240	NM_002497.4(NEK2):c.76C>T (p.Arg26Trp)	LOC129932452, NEK2 (R26W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359932	NM_002497.4(NEK2):c.96+6C>T	LOC129932452, NEK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1061892	NM_002497.4(NEK2):c.10C>T (p.Arg4Trp)	LOC129932452, NEK2 (R4W)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 403229	NM_002497.4(NEK2):c.15T>G (p.Ala5=)	LOC129932452, NEK2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign